Alternative titles; symbols
HGNC Approved Gene Symbol: AHNAK2
Cytogenetic location: 14q32.33 Genomic coordinates (GRCh38) : 14:104,937,253-104,978,374 (from NCBI)
By searching for sequences similar to mouse Ahnak (103390), Komuro et al. (2004) cloned AHNAK2. The deduced 600-kD protein contains an N-terminal PDZ domain, followed by 24 repeats of about 165 amino acids each and a C-terminal segment of about 100 kD. Each repeat likely folds into anti-parallel beta strands to generate tandemly connected propeller-like units. AHNAK2 also has 10 potential SH3-binding sites. Immunolocalization showed Ahnak2 localized to Z-band regions of mouse heart, where it colocalized with alpha-actinin (see ACTN1; 102575). Subcellular fractionation of mouse myocardium found Ahnak2 localized with Ahnak in nuclei and myofibrillar aggregates that included Z-band material and in a vesicular fraction that included a T-tubule marker.
Komuro et al. (2004) determined that the AHNAK2 gene contains at least 7 exons. The first 6 exons are relatively small, while exon 7 is almost 18 kb.
By genomic sequence analysis, Komuro et al. (2004) mapped the AHNAK2 gene to chromosome 14q32.
Komuro, A., Masuda, Y., Kobayashi, K., Babbitt, R., Gunel, M., Flavell, R. A., Marchesi, V. T. The AHNAKs are a class of giant propeller-like proteins that associate with calcium channel proteins of cardiomyocytes and other cells. Proc. Nat. Acad. Sci. 101: 4053-4058, 2004. [PubMed: 15007166] [Full Text: https://doi.org/10.1073/pnas.0308619101]